Canonical Allele Identifier: CA415257472

Gene: EMD

Linked Data

• dbSNP Id: rs2148128155
• MyVariant Identifiers: chrX:g.153608106C>G (hg19) ; chrX:g.154379746C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379746C>G , CM000685.2:g.154379746C>G	GRCh38
NC_000023.10:g.153608106C>G , CM000685.1:g.153608106C>G	GRCh37
NC_000023.9:g.153261300C>G	NCBI36
NG_008677.1:g.10311C>G , LRG_745:g.10311C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.139C>G	ENSP00000507245.1:p.Arg47Gly
ENST00000682478.1:n.115C>G
ENST00000683576.1:n.115C>G
ENST00000683627.1:c.139C>G	ENSP00000507533.1:p.Arg47Gly
ENST00000684082.1:c.139C>G	ENSP00000508266.1:p.Arg47Gly
ENST00000684633.1:n.111C>G
ENST00000684678.1:c.135C>G	ENSP00000507059.1:p.Gly45=
ENST00000369842.9:c.139C>G MANE Select	ENSP00000358857.4:p.Arg47Gly
ENST00000369835.3:c.82+180C>G	ENSP00000358850.3:n.82+180C>G
ENST00000369842.8:c.139C>G	ENSP00000358857.4:p.Arg47Gly
ENST00000428228.5:c.*44C>G	ENSP00000401081.1:n.*44C>G
ENST00000468294.5:n.99C>G
ENST00000485261.1:n.163+180C>G
ENST00000486738.5:n.283C>G
ENST00000492448.1:n.122C>G
ENST00000494443.5:n.196C>G
NM_000117.2:c.139C>G , LRG_745t1:c.139C>G	NP_000108.1:p.Arg47Gly
XM_024452349.1:c.-70C>G	XP_024308117.1:n.-70C>G
NM_000117.3:c.139C>G MANE Select	NP_000108.1:p.Arg47Gly